I’ve known Carly Siskind for at least 15 years. She is a board-certified genetic counselor who worked with Dr. Michael Shy at the Wayne State CMT clinic in Detroit (Dr. Shy’s CMT Center of Excellence is now in Iowa). Today, Carly is currently working at Stanford University and Hospital and Lucile Packard Children’s Hospital as a genetic counselor and still passionately works with people who have CMT. She’s on the CMTA’s Advisory Board, and she knows A LOT about CMT and genetics. She’s one smart cookie, so I asked her about the DNA testing company.
With all the news about potential drug therapies for CMT1A, I see a lot of people purchasing 23andMe tests to validate a CMT diagnosis. I wanted her opinion on the topic.
This is what Carly wrote,
23andMe does not look for CMT. It is approved to look at some other conditions, such as Bloom syndrome, but it does not do full gene sequencing of any conditions. In addition, it is not certified to be used for clinical actionability. If a finding is found at 23andMe, it still needs to be confirmed in a CLIA-certified ( Clinical Laboratory Improvement Amendments) lab in order to use the results for clinical purposes (such as treatment or clinical trials).
Genetic testing companies that do testing for CMT are CLIA certified, meaning that they pass government inspection of their processes and prove that they can perform the specific test with almost zero false positives or negatives (genetic testing has a 99.9% success rate). These labs also have specialized individuals who work on variant interpretation, with intimate knowledge of the genes and variants tested. The genetic testing itself is not usually the hard part – it is usually the interpretation. Having a specialized team that works on the interpretation is of vital importance to getting accurate results that provide personally and clinically meaningful results to patients and families.
Genetic testing does not need to be expensive. Check with your healthcare professionals about different laboratories that will try to make testing be a low of a cost out-of-pocket to you as possible. Many insurances will cover genetic testing, particularly if it will change management, or if for family planning purposes. You can find a genetic counselor at www.nsgc.org.
So folks, if you want to know what subtype of CMT you have, a DNA kit from 23andMe is not the answer, nor will it save you money on genetic testing. The results will not be accepted as proof of a CMT diagnosis when clinical trials are available. Genetic testing for CMT has changed. At one point, a few genetic testing companies, like Athena Diagnostics had the market on genetic testing and a full panel could cost between $15,000-$20,000. THIS IS NO LONGER THE CASE!! Please go to the CMTA website for more information about genetic testing for CMT!!
And thank you, Carly, for such valuable information!!
PS: Just to specify, I purchased a 23andMe kit quite some time ago to better understand my roots. Although my ancestry reports are quite boring – I am 100% European – it was extremely interesting to see where my relatives came from and the voyage they made. I happen to be less Neanderthal than 73% of all people who have taken the test, which made me feel good in some weird way – maybe a bit more refined (listen, it’s good for my self-esteem).
The biggest quandary I faced was to decide whether or not to look at some of the health information, including my risk for Parkinson, Alzheimer and other scary diseases. It’s like having 5 boxes, decorated in attractive glitter wrapping you go by every day. You can open them at any time, but one or all might, just might contain unsettling news – like finding out that you have a genetic variant that may increase your risk of developing certain health conditions. It’s such a personal choice. What would you choose to do? Do you want to be in the know, or not?
Thank you Elizabeth for being a supreme educator. Betty mousel
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I got all the results. Didn’t even think twice. Everything was negative or near negative.
Oh and I am more Neanderthal than 75% of the people!!!! Good thing opposites attract. No wonder we are friends. Interesting information. Thank you!!!!
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That’s funny. Gilles had a lot of Neanderthal too (big surprise, right?) but he was very proud of it!!
It’s so funny that things like this are so commonplace and affordable. Many years ago when I was diagnosed with Marfan Syndrome, our insurance wouldn’t pay for genetic testing. Apparently finding out if I have a life threatening genetic disorder wasn’t cost effective. It’s amazing that this kind of technology is readily available now.